Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Hoda, Tomoum"'
1
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Autor: Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Publikováno v: Human Genetics. Springer-Verlag
Human Genetics
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f2202f9c8b9a470b51960f983f5e6
https://doi.org/10.1007/s00439-023-02552-2
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2
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Autor: Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547
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3
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
Autor: Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Hanan Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horvath, Semra Hiz, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian
Publikováno v: Magrinelli, F, Cali, E, Braga, V L, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, F M, Povoas Barsottini, O G, Taylor, R W, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, J M, Zaki, M S, Kok, F, Bhatia, K P, Wissinger, B, Sergeant, K, Haack, T B, Horvath, R, Hiz, S, Alkuraya, F S, Houlden, H, Pedroso, J L & Maroofian, R 2022, ' Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy ', Movement Disorders Clinical Practice, vol. 9, no. 2, pp. 218-228 . https://doi.org/10.1002/mdc3.13398
Background Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, both phenoty
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1e8bb8862ff5a7211b2d88954591bc
https://curis.ku.dk/ws/files/305536910/Movement_Disord_Clin_Pract_2021_Magrinelli_Biallelic_Loss_of_Function_NDUFA12_Variants_Cause_a_Wide_Phenotypic.pdf
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5
Akademický článek
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
Autor: Abdulaziz AlSaman, Hoda Tomoum, Federica Invernizzi, Massimo Zeviani
Publikováno v: The Saudi Journal of Gastroenterology, Vol 18, Iss 4, Pp 285-289 (2012)
Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in
Externí odkaz: https://doaj.org/article/5d3bd7f0281e44b4aa06d0b7d604e775
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7
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
Autor: Hatem, Zayed, Hamed, El Khayat, Hoda, Tomoum, Ola, Khalifa, Ehab, Siddiq, Shaimaa A, Mohammad, Radwa, Gamal, Zumin, Shi, Ahmed, Mosailhy, Osama K, Zaki
Publikováno v: Metabolic Brain Disease
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33fad950186ff32292322b8f0e17826b
https://pubmed.ncbi.nlm.nih.gov/31062211
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